gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43852439del , CM000664.2:g.43852439del | GRCh38 |
| NC_000002.11:g.44079578del , CM000664.1:g.44079578del | GRCh37 |
| NC_000002.10:g.43933082del | NCBI36 |
| NG_008884.1:g.18476del | |
| NG_008884.2:g.25498del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272286.4:c.647del MANE Select | ENSP00000272286.2:p.Gly216ValfsTer? | |
| ENST00000644611.1:c.659del | ENSP00000495423.1:p.Gly220ValfsTer? | |
| ENST00000272286.2:c.647del | ENSP00000272286.2:p.Gly216ValfsTer? | |
| NM_022437.2:c.647del | NP_071882.1:p.Gly216ValfsTer? | |
| XM_005264483.2:c.647del | XP_005264540.1:p.Gly216ValfsTer? | |
| XM_011533029.1:c.659del | XP_011531331.1:p.Gly220ValfsTer? | |
| XM_011533030.1:c.659del | XP_011531332.1:p.Gly220ValfsTer? | |
| XM_011533031.1:c.431del | XP_011531333.1:p.Gly144ValfsTer? | |
| XR_939707.1:n.1149del | ||
| NM_001357321.1:c.647del | NP_001344250.1:p.Gly216ValfsTer? | |
| XM_011533029.2:c.659del | XP_011531331.1:p.Gly220ValfsTer? | |
| XM_011533030.2:c.659del | XP_011531332.1:p.Gly220ValfsTer? | |
| XR_001738891.1:n.1163del | ||
| XR_939707.2:n.1163del | ||
| NM_022437.3:c.647del MANE Select | NP_071882.1:p.Gly216ValfsTer? | |
| NM_001357321.2:c.647del | NP_001344250.1:p.Gly216ValfsTer? |